Sickle Cell Disease

What is Sickle Cell?

• A genetic disorder that affects hemoglobin, a protein in red blood cells
• Characterized by abnormal hemoglobin, called sickle hemoglobin (HbS)

Causes and Inheritance

• Autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent)
• More common in people of African, Mediterranean, and Middle Eastern descent
• Can also occur in people of Hispanic, South Asian, and Southeast Asian ancestry

Symptoms

• Anemia (low red blood cell count)
• Jaundice (yellowing of the skin and eyes)
• Fatigue
• Shortness of breath
• Increased risk of infections
• Episodes of pain (sickle cell crisis)
  • Often occurs in the hands and feet, but can occur in other parts of the body
  • Can be severe and debilitating
• Delayed growth and development in children

Complications

• Increased risk of infections, particularly pneumonia and meningitis
• Organ damage, including kidney and liver damage
• Stroke and seizures
• Blindness and vision problems
• Priapism (prolonged and painful erection)

Diagnosis

• Newborn screening tests for HbS
• Blood tests to detect HbS and confirm diagnosis
• Genetic testing for family members of those with sickle cell disease

Treatment and Management

• Pain management with medication
• Antibiotics to prevent infections
• Blood transfusions to increase red blood cell count
• Hydroxyurea to reduce complications
• Bone marrow transplantation in severe cases
• Lifestyle modifications, including staying hydrated and avoiding stress

What is Sickle Cell?

• A genetic disorder that affects hemoglobin, a protein in red blood cells, characterized by abnormal hemoglobin called sickle hemoglobin (HbS)

Causes and Inheritance

• Autosomal recessive disorder, requiring two copies of the mutated gene (one from each parent)
• More common in people of African, Mediterranean, and Middle Eastern descent
• Also occurs in people of Hispanic, South Asian, and Southeast Asian ancestry

Symptoms

• Anemia (low red blood cell count)
• Jaundice (yellowing of the skin and eyes)
• Fatigue
• Shortness of breath
• Increased risk of infections
• Episodes of pain (sickle cell crisis), often in hands and feet, but can occur elsewhere
• Delayed growth and development in children

Complications

• Increased risk of infections, particularly pneumonia and meningitis
• Organ damage, including kidney and liver damage
• Stroke and seizures
• Blindness and vision problems
• Priapism (prolonged and painful erection)

Diagnosis

• Newborn screening tests for HbS
• Blood tests to detect HbS and confirm diagnosis
• Genetic testing for family members of those with sickle cell disease

Treatment and Management

• Pain management with medication
• Antibiotics to prevent infections
• Blood transfusions to increase red blood cell count
• Hydroxyurea to reduce complications
• Bone marrow transplantation in severe cases
• Lifestyle modifications, including staying hydrated and avoiding stress